( e ) Father’s missense mutation HSD3B2 c.370 A>G. ( f ) Mother’s intronic mutation HSD3B2 c.308-6 G>A. The missense mutation on exon 4 c.370 A>G, leading to serine substitution in position 124 with a glycine (p.Ser124Gly), was inherited from the father and never described in the literature. Alamut: variant of uncertain significance (PM1, PM2, BP4); Franklin: variant of uncertain significance, likely pathogenic (PM2, PM1 e PP2). Table 3. Predictor Outcome metal Damaging (score: 0.8606) REVEL Pathogenic (score: 0.6129) DEOGEN2 Damaging (score: 0.6196, 0.7482) FATHMM Damaging (score: −3.44) M-CAP Damaging (score: 0.1732) MVP Pathogenic (score: 0.9976) MutPred Pathogenic (score: 0.935) Mutation assessor High (score: 3.86) PROVEAN Damaging (score: −3.02, −3.49) SIFT4G Damaging (score: 0.002, 0.003) PolyPhen2 HDivPred = probably damaging (score: 0.986)/HVarPred = possibly damaging (score: 0.898) EIGEN Neutral (score −0.1586) LRT Neutral (score 0.06347) Mutation taster Polymorphism (score: 0.9774) PrimateAI Tolerated (score 0.3522) 4.2.
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Qual valor da mega da virada, real madrid x valencia
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